WormBase Tree Display for Variation: WBVar00000066

WBVar00000066 Evidence: Paper_evidence: WBPaper00002466
  Name: Public_name: ad810
    Other_name: M01D7.7b.1:c.479G>A
      CE30556:p.Trp160Ter
      CE12272:p.Trp212Ter
      M01D7.7a.1:c.635G>A
    HGVSg: CHROMOSOME_I:g.1839292G>A
  Sequence_details: SMap: S_parent: Sequence: M01D7
    Flanking_sequences: tcggaggtcagcgatcagaaaggcggaagt gatccactgtttcgaaaatgtcacctcaat
    Mapping_target: M01D7
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002466
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005517
      WBStrain00005543
      WBStrain00005545
      WBStrain00005679
    Laboratory: DA
    Status: Live
  Affects: Gene: WBGene00001196
    Transcript: M01D7.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M01D7.7b.1:c.479G>A
        HGVSp: CE30556:p.Trp160Ter
        cDNA_position: 2025
        CDS_position: 479
        Protein_position: 160
        Exon_number: 5/9
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      M01D7.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M01D7.7a.1:c.635G>A
        HGVSp: CE12272:p.Trp212Ter
        cDNA_position: 910
        CDS_position: 635
        Protein_position: 212
        Exon_number: 6/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I -12.5529
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: recessive lethal, flaccid arrest at hatching Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
  Reference: WBPaper00014715
    WBPaper00002466
    WBPaper00021675
  Method: Substitution_allele